Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update

PURPOSE: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that involves palmoplantar keratosis (PK) and severe aggressive periodontitis. Cathepsin C (CTSC) gene mutations are etiologic for PLS, with more than 60 different mutations reported in different ethnic groups worldwide....

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Udgivet i:J Dent Child (Chic)
Main Authors: Pallos, Debora, Acevedo, Ana Carolina, Mestrinho, Heliana Dantas, Cordeiro, Ilia, Hart, Thomas C., Hart, P. Suzanne
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4617240/
https://ncbi.nlm.nih.gov/pubmed/20359428
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